Publications by authors named "Luis Negrão"

24Publications

Laing early-onset distal myopathy with subsarcolemmal hyaline bodies caused by a novel variant in the gene.

Acta Myol 2020 Mar 1;39(1):24-28. Epub 2020 Mar 1.

Neuromuscular Disease Unit, Neurology Department, Coimbra University and Hospital Centre, Coimbra, Portugal.

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http://dx.doi.org/10.36185/2532-1900-004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7315894PMC
March 2020

The first Portuguese family with NEFL-related Charcot-Marie-Tooth type 2 disease.

Acta Myol 2019 Sep 1;38(3):180-183. Epub 2019 Sep 1.

Neuromuscular Disease Unit, Neurology Department, Coimbra University and Hospital Centre, Coimbra, Portugal.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6859411PMC
September 2019

Subacute inflammatory myopathy associated with papillary cancer of the thyroid gland.

Acta Myol 2019 Jun 1;38(2):37-40. Epub 2019 Jun 1.

Neuromuscular Disease Unit, Neurology Department, Coimbra University and Hospital Centre, Coimbra, Portugal.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6598410PMC
June 2019

Increased risk of melanoma in C9ORF72 repeat expansion carriers: A case-control study.

Muscle Nerve 2019 03 27;59(3):362-365. Epub 2018 Dec 27.

CHUC, Serviço de Neurologia, Praceta Prof. Mota Pinto, 3000-075, Coimbra, Portugal.

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http://doi.wiley.com/10.1002/mus.26383
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http://dx.doi.org/10.1002/mus.26383DOI Listing
March 2019

gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family.

Acta Myol 2018 May 1;37(1):2-4. Epub 2018 May 1.

Consulta de Doenças Neuromusculares, Centro Hospitalar e Universitário de Coimbra, Praceta Mota Pinto, 3000-075 Coimbra, Portugal.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6060428PMC
May 2018

Novel mosaic mutation in the dystrophin gene causing distal asymmetric muscle weakness of the upper limbs and dilated cardiomyopathy.

Acta Myol 2018 Jun 1;37(2):117-120. Epub 2018 Jun 1.

Neuromuscular Disease Unit, Coimbra University and Hospital Centre, Coimbra, Portugal.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6060426PMC
June 2018

Bethlem myopathy in a Portuguese patient - case report.

Acta Myol 2017 Sep 1;36(3):178-181. Epub 2017 Sep 1.

Neuromuscular Disease Unit, Neurology Department, Coimbra University and Hospital Center, Coimbra, Portugal.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5953228PMC
September 2017

Screening for Pompe disease in a Portuguese high risk population.

Neuromuscul Disord 2017 Aug 29;27(8):777-781. Epub 2017 Mar 29.

Serviço de Neurologia, Hospital de Santa Maria (Centro Hospitalar de Lisboa Norte, EPE), Av. Professor Egas Moniz, 1649-035 Lisboa, Portugal.

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http://dx.doi.org/10.1016/j.nmd.2017.03.010DOI Listing
August 2017

Uridine monophosphate, folic acid and vitamin B12 in patients with symptomatic peripheral entrapment neuropathies.

Pain Manag 2016 17;6(1):25-9. Epub 2015 Dec 17.

UCSP Convenção, Odivelas, Lisboa, Portugal.

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https://www.futuremedicine.com/doi/10.2217/pmt.15.60
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http://dx.doi.org/10.2217/pmt.15.60DOI Listing
October 2016

New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing.

J Hum Genet 2015 Jun 5;60(6):305-12. Epub 2015 Mar 5.

1] Departamento de Microscopia, Laboratório de Biologia Celular, Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, Porto, Portugal [2] Unidade Multidisciplinar de Investigação Biomédica (UMIB), Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, Porto, Portugal [3] Centro de Genética da Reprodução Professor Alberto Barros, Porto, Portugal.

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http://dx.doi.org/10.1038/jhg.2015.20DOI Listing
June 2015

Macrophagic myofasciitis and vaccination: consequence or coincidence?

Rheumatol Int 2015 Jan 13;35(1):189-92. Epub 2014 Jun 13.

Rheumatology Unit, Centro Hospitalar e Universitário de Coimbra, Praceta Prof. Mota Pinto, 3000-075, Coimbra, Portugal,

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http://dx.doi.org/10.1007/s00296-014-3065-4DOI Listing
January 2015

Effect of the combination of uridine nucleotides, folic acid and vitamin B12 on the clinical expression of peripheral neuropathies.

Pain Manag 2014 May 16;4(3):191-6. Epub 2014 May 16.

Service of Neurology. Hospital Universitario. Ladeira da Porteladinha, No. 46, 3030-203 Coimbra, Portugal.

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https://www.futuremedicine.com/doi/10.2217/pmt.14.10
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http://dx.doi.org/10.2217/pmt.14.10DOI Listing
May 2014

Autosomal recessive axonal neuropathy with neuromyotonia: a rare entity.

Pediatr Neurol 2014 Jan 13;50(1):104-7. Epub 2013 Oct 13.

Unidade de Neuropediatria, Centro de Desenvolvimento da Criança Luis Borges, Hospital Pediátrico de Coimbra, Centro Hospitalar Universitário de Coimbra, Portugal.

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http://dx.doi.org/10.1016/j.pediatrneurol.2013.08.028DOI Listing
January 2014

[Emery-Dreifuss muscular dystrophy: case report].

Rev Port Cardiol 2012 Mar;31(3):241-5

Serviço de Cardiologia, Hospitais da Universidade de Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1016/j.repc.2012.01.006DOI Listing
March 2012

Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America.

Neuromuscul Disord 2011 May 9;21(5):328-37. Epub 2011 Mar 9.

Clinical Unit, Department of Genetics, Faculty of Medicine, University of the Republic, Av. Gral. Flores 2125, Montevideo CP 11800, Uruguay.

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http://dx.doi.org/10.1016/j.nmd.2011.02.003DOI Listing
May 2011

Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51.

J Hum Genet 2010 Aug 10;55(8):546-9. Epub 2010 Jun 10.

Unidade de Genética Molecular, Centro de Genética Médica Jacinto Magalhães, Instituto Nacional de Saúde Ricardo Jorge, Porto, Portugal.

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http://www.nature.com/articles/jhg201060
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http://dx.doi.org/10.1038/jhg.2010.60DOI Listing
August 2010